List of variants in gene NBEAL2 reported as likely benign for gray platelet syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_015175.3(NBEAL2):c.*219A>C	rs1048808	0.01517
NM_015175.3(NBEAL2):c.3036C>T (p.Ser1012=)	rs139218926	0.00414
NM_015175.3(NBEAL2):c.4485-8C>T	rs145760682	0.00350
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln)	rs181413143	0.00289
NM_015175.3(NBEAL2):c.5301+11C>T	rs201354947	0.00274
NM_015175.3(NBEAL2):c.5103C>T (p.Phe1701=)	rs199537643	0.00260
NM_015175.3(NBEAL2):c.2376G>A (p.Arg792=)	rs200489667	0.00251
NM_015175.3(NBEAL2):c.1038C>T (p.Tyr346=)	rs201015016	0.00196
NM_015175.3(NBEAL2):c.3384+5G>A	rs370559049	0.00156
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met)	rs202071400	0.00133
NM_015175.3(NBEAL2):c.7602+10G>A	rs201513299	0.00118
NM_015175.3(NBEAL2):c.1600C>T (p.Arg534Cys)	rs202209383	0.00102
NM_015175.3(NBEAL2):c.5662C>G (p.Pro1888Ala)	rs200641534	0.00019
NM_015175.3(NBEAL2):c.4669C>G (p.Leu1557Val)	rs534419583	0.00007
NM_015175.3(NBEAL2):c.4978C>T (p.Arg1660Cys)	rs142355538	0.00006
NM_015175.3(NBEAL2):c.*65A>G	rs538014431	0.00001

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